Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26491 | 79696;79697;79698 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| N2AB | 24850 | 74773;74774;74775 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| N2A | 23923 | 71992;71993;71994 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| N2B | 17426 | 52501;52502;52503 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| Novex-1 | 17551 | 52876;52877;52878 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| Novex-2 | 17618 | 53077;53078;53079 | chr2:178566661;178566660;178566659 | chr2:179431388;179431387;179431386 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs2154165760  |
None | 1.0 | D | 0.905 | 0.752 | None | gnomAD-4.0.0 | 1.59297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.811 | 0.741 | 0.779549877845 | gnomAD-4.0.0 | 1.59291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90259E-05 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6698 | likely_pathogenic | 0.5372 | ambiguous | -2.151 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.541471395 | None | None | N |
| P/C | 0.9572 | likely_pathogenic | 0.9323 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9955 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/F | 0.9977 | likely_pathogenic | 0.9962 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/G | 0.9893 | likely_pathogenic | 0.9813 | pathogenic | -2.644 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/H | 0.9958 | likely_pathogenic | 0.9931 | pathogenic | -2.356 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.57457926 | None | None | N |
| P/I | 0.8737 | likely_pathogenic | 0.8428 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/K | 0.998 | likely_pathogenic | 0.9971 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/L | 0.822 | likely_pathogenic | 0.76 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.573565302 | None | None | N |
| P/M | 0.9672 | likely_pathogenic | 0.9512 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9965 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Q | 0.9923 | likely_pathogenic | 0.9868 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/R | 0.9937 | likely_pathogenic | 0.9904 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.57432577 | None | None | N |
| P/S | 0.9679 | likely_pathogenic | 0.9373 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.574072281 | None | None | N |
| P/T | 0.9171 | likely_pathogenic | 0.8336 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.574072281 | None | None | N |
| P/V | 0.7236 | likely_pathogenic | 0.6519 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.707 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.